Rare Disease Library

Browse Orphanet-curated rare diseases with HPO phenotype annotations, synonyms, and linked support programs. Search by name, abbreviation, or synonym.

Try: "IgA nephropathy", "C3G", "Berger's disease", "PKU", "Duchenne"

4 matching diseasesClear search ×

Childhood disintegrative disorder

Heller syndrome · Dementia infantilis

ORPHA:168782

Dementia pugilistica

Boxer's dementia · Chronic traumatic encephalopathy

ORPHA:97353

Rare dementia

ORPHA:89043

Semantic dementia

Semantic primary progressive aphasia · Semantic variant PPA

ORPHA:100069